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Congenital cataract

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https://www.readbyqxmd.com/read/28936763/sequence-specific-1-h-13-c-and-15-n-resonance-assignments-of-a-cataract-related-variant-g57w-of-human-%C3%AE-s-crystallin
#1
Khandekar Jishan Bari, Shrikant Sharma, Kandala V R Chary
γS-crystallin is a major structural component of the human eye lens, which maintains its stability over the lifetime of an organism with negligible turnover. The G57W mutant of human γS-crystallin (abbreviated hereafter as γS-G57W) is associated with dominant congenital cataracts. In order to provide a structural basis for the ability of γS-G57W causing cataract, we have cloned, overexpressed, isolated and purified the protein. The 2D [(15)N-(1)H]-HSQC spectrum recorded with uniformly (13)C/(15)N-labelled γS-G57W was highly dispersed indicating the protein to adopt an ordered conformation...
September 21, 2017: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/28928627/a-novel-truncation-mutation-in-crybb1-associated-with-autosomal-dominant-congenital-cataract-with-nystagmus
#2
Yan Rao, Sufang Dong, Zuhua Li, Guohua Yang, Chunyan Peng, Ming Yan, Fang Zheng
PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis and direct sequencing for the candidate genes in the linkage regions to identify the causative mutation. The molecular and bio-functional properties of the proteins encoded by the candidate genes was further explored with biophysical and biochemical studies of the recombinant wild-type and mutant proteins...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28923585/the-genetics-of-congenital-aniridia-a-guide-for-the-ophthalmologist
#3
Erlend S Landsend, Øygunn A Utheim, Hilde R Pedersen, Neil Lagali, Rigmor C Baraas, Tor P Utheim
Congenital aniridia is a rare panocular disease caused by fundamental disturbances in the development of the eye, characterized primarily by hypoplasia of the iris and the retinal fovea. Severe secondary complications such as keratopathy, cataract, and glaucoma are common and often lead to considerable visual impairment or blindness. Many complications in aniridia patients are difficult to treat and present a challenge for the ophthalmologist. Increasingly, associated non-ocular features of the disease are also being recognised...
September 15, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#4
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28919577/some-properties-of-three-%C3%AE-b-crystallin-mutants-carrying-point-substitutions-in-the-c-terminal-domain-and-associated-with-congenital-diseases
#5
Evgenia S Gerasimovich, Sergei V Strelkov, Nikolai B Gusev
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated. Oligomers formed by G154S and A171T mutants have the size and apparent molecular weight indistinguishable from those of the wild-type HspB5, whereas the size of oligomers formed by R157H mutant is slightly smaller. All mutants are less thermostable and start to aggregate at a lower temperature than the wild-type protein...
September 14, 2017: Biochimie
https://www.readbyqxmd.com/read/28888967/twenty-five-gauge-sutureless-lensectomy-in-infants-with-congenital-cataract
#6
Marcia Beatriz Tartarella, João Borges Fortes Filho
PURPOSE: To evaluate the incidence of intra- and postoperative complications of transconjunctival 25-gauge (25G) sutureless pars plicata lensectomy. METHODS: The medical records of patients <12 months of age with congenital cataracts who underwent 25G sutureless lensectomy were reviewed retrospectively. Patients were evaluated at postoperative days 1, 7, 15, 30, 60, and 90 and every 3 months thereafter. Visual acuity outcomes and intra- and postoperative complications were described and analyzed...
September 6, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28877251/identification-of-a-novel-gja3-mutation-in-a-large-chinese-family-with-congenital-cataract-using-targeted-exome-sequencing
#7
Yihua Yao, Xuedong Zheng, Xianglian Ge, Yanghui Xiu, Liu Zhang, Weifang Fang, Junzhao Zhao, Feng Gu, Yihua Zhu
Autosomal dominant congenital cataract (ADCC) is a clinically and genetically heterogeneous ocular disease in children that results in serious visual impairments or even blindness. Targeted exome sequencing (TES) is an efficient method used for genetic diagnoses of inherited diseases. In the present study, we used a custom-made TES panel to identify the genetic defect of a four-generation Chinese family with bilateral pulverulent nuclear cataracts. A novel heterozygous missense mutation c.443C>T (p. T148I) in GJA3 was identified...
2017: PloS One
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#8
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28871046/loss-of-ocrl-increases-ciliary-pi-4-5-p2-in-oculocerebrorenal-syndrome-of-lowe
#9
Philipp P Prosseda, Na Luo, Biao Wang, Jorge A Alvarado, Yang Hu, Yang Sun
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL1, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane poorly understood. Here we demonstrate that cilia from Lowe syndrome patient fibroblasts exhibit increased levels of PI(4,5)P2 and decreased levels of PI4P...
September 4, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28868593/mutation-in-the-agk-gene-in-two-siblings-with-unusual-sengers-syndrome
#10
Sanae Allali, Imen Dorboz, Simon Samaan, Abdelhamid Slama, Charlène Rambaud, Odile Boespflug-Tanguy, Catherine Sarret
Sengers syndrome is a rare autosomal recessive metabolic disorder caused by lack of acylglycerol kinase due to mutations in the AGK gene. It is characterized by congenital cataract, hypertrophic cardiomyopathy, myopathy and lactic acidosis. Two clinical forms have been described: a severe neonatal form, and a more benign form displaying exercise intolerance. We describe two siblings with congenital cataract, cardiomyopathy, hypotonia, intellectual disability and lactic acidosis. Whole exome sequencing revealed a homozygous c...
September 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28855599/functional-non-coding-polymorphism-in-an-epha2-promoter-pax2-binding-site-modifies-expression-and-alters-the-mapk-and-akt-pathways
#11
Xiaoyin Ma, Zhiwei Ma, Xiaodong Jiao, J Fielding Hejtmancik
To identify possible genetic variants influencing expression of EPHA2 (Ephrin-receptor Type-A2), a tyrosine kinase receptor that has been shown to be important for lens development and to contribute to both congenital and age related cataract when mutated, the extended promoter region of EPHA2 was screened for variants. SNP rs6603883 lies in a PAX2 binding site in the EPHA2 promoter region. The C (minor) allele decreased EPHA2 transcriptional activity relative to the T allele by reducing the binding affinity of PAX2...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28846049/the-safety-of-lumacaftor-and-ivacaftor-for-the-treatment-of-cystic-fibrosis
#12
Maria Talamo Guevara, Susanna A McColley
Lumacaftor-ivacaftor is indicated for treatment of cystic fibrosis (CF) in patients homozygous for the Phe-508del cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. In clinical trials, treated patients showed improved pulmonary function, reduced pulmonary exacerbations, and other benefits. This article reviews safety of this therapy. Areas covered: Safety findings in ivacaftor, lumacaftor and combined therapy trials, and reported subsequently through post-approval evaluation, were accessed by PubMed and Google searches using key words 'VX-770', 'ivacaftor', 'VX-809', and 'lumacaftor'...
September 21, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28845327/biocompatibility-of-intraocular-lenses
#13
REVIEW
Pelin Özyol, Erhan Özyol, Fatih Karel
The performance of an intraocular lens is determined by several factors such as the surgical technique, surgical complications, intraocular lens biomaterial and design, and host reaction to the lens. The factor indicating the biocompatibility of an intraocular lens is the behavior of inflammatory and lens epithelial cells. Hence, the biocompatibility of intraocular lens materials is assessed in terms of uveal biocompatibility, based on the inflammatory foreign-body reaction of the eye against the implant, and in terms of capsular biocompatibility, determined by the relationship of the intraocular lens with residual lens epithelial cells within the capsular bag...
August 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28837160/loss-of-function-mutations-in-tdrd7-lead-to-a-rare-novel-syndrome-combining-congenital-cataract-and-nonobstructive-azoospermia-in-humans
#14
Yue-Qiu Tan, Chaofeng Tu, Lanlan Meng, Shimin Yuan, Calvin Sjaarda, Aixiang Luo, Juan Du, Wen Li, Fei Gong, Changgao Zhong, Han-Xiang Deng, Guangxiu Lu, Ping Liang, Ge Lin
PurposeComorbid familial nonobstructive azoospermia (NOA) and congenital cataract (CC) have not been reported previously, and no single human gene has been associated with both diseases in humans. Our purpose was to uncover novel human mutations and genes causing familial NOA and CC.MethodsWe performed whole-exome sequencing for two brothers with both NOA and CC from a consanguineous family. Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28836894/a-novel-mutation-of-mip-in-a-chinese-family-with-congenital-nuclear-cataract-identified-by-whole-exome-sequencing
#15
Shuaimei Liu, Peiran Zhu, Mengxia Ni, Mingchao Zhang, Weijun Jiang, Maomao Yu, Jing Zhang, Qiuyue Wu, Weiwei Li, Chunyan Xue, Xinyi Xia
No abstract text is available yet for this article.
August 24, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28831547/developmental-visual-deprivation-long-term-effects-on-human-cone-driven-retinal-function
#16
Paolo Esposito Veneruso, Lucia Ziccardi, Giulia Magli, Vincenzo Parisi, Benedetto Falsini, Adriano Magli
PURPOSE: To assess whether infantile visual deprivation induced by developmental cataract may influence the cone-driven retinal function in humans. METHODS: A total of 14 patients with history of bilateral developmental cataract (DC), who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity measurement...
August 22, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28827829/characterization-of-a-variant-of-gap-junction-protein-%C3%AE-8-identified-in-a-family-with-hereditary-cataract
#17
Debbie S Kuo, Jared T Sokol, Peter J Minogue, Viviana M Berthoud, Anne M Slavotinek, Eric C Beyer, Douglas B Gould
PURPOSE: Congenital cataracts occur in isolation in about 70% of cases or are associated with other abnormalities such as anterior segment dysgenesis and microphthalmia. We identified a three-generation family in the University of California San Francisco glaucoma clinic comprising three individuals with congenital cataracts and aphakic glaucoma, one of whom also had microphthalmia. The purpose of this study was to identify a possible causative mutation in this family and to investigate its pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28820161/ocular-morbidity-patterns-among-children-in-schools-for-the-blind-in-chennai
#18
M Vs Prakash, S Sivakumar, Ashutosh Dayal, A Chitra, Sudharshini Subramaniam
PURPOSE: To identify the morbidity patterns causing blindness in children attending schools for the blind in Chennai and comparing our data with similar studies done previously. METHODS: A cross-sectional prevalence study was carried out in two schools for the blind in Chennai. Blind schools were visited by a team of ophthalmologists and optometrists. Students with best-corrected visual acuity (BCVA) worse than 3/60 in the better eye were included and relevant history was noted...
August 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28803024/a-comparison-of-splicing-assays-to-detect-an-intronic-variant-of-the-ocrl-gene-in-lowe-syndrome
#19
Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima
Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious. In this report, we conducted genetic testing of a patient clinically diagnosed with Lowe syndrome to detect the presence of OCRL variants...
August 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28799971/macroaneurysms-associated-with-congenital-retinal-macrovessels
#20
Dov B Sebrow, Eduardo Cunha de Souza, José Belúcio Neto, Marina Roizenblatt, Claudio Zett Lobos, Pedro Paulo Bonomo, Yasha Modi, Joel S Schuman, K Bailey Freund
PURPOSE: Congenital retinal macrovessels are large aberrant retinal blood vessels that cross the horizontal raphe and can traverse the central macula. Using multimodal imaging and optical coherence tomography angiography, we describe 2 cases of congenital retinal macrovessel associated with macroaneurysms. METHODS: Two patients presented for evaluation and were found to have congenital retinal macrovessels associated with macroaneurysms. Color photography, optical coherence tomography, fundus autofluorescence fluorescein angiography, and optical coherence tomography angiography were performed and used to establish the diagnosis and monitor resolution at follow-up visits...
August 9, 2017: Retinal Cases & Brief Reports
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